SLC25A24 - solute carrier family 25 member 24 Gene
Also Known as APC1; SCAMC1; SCAMC-1
生物種: Homo sapiens
About SLC25A24
This gene has 5 transcripts (splice variants), 1 gene allele, 189 orthologues, 49 paralogues and is associated with 4 phenotypes. Ubiquitous expression in small intestine (RPKM 21.4), colon (RPKM 20.9) and 25 other tissues.
Summary
This gene encodes a carrier protein that transports ATP-Mg exchanging it for phosphate. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
SLC25A24 Products (4)
| mRNA | Protein | Name |
|---|---|---|
| NM_013386.5 | NP_037518.3 | calcium-binding mitochondrial carrier protein SCaMC-1 isoform 1 |
| NM_213651.3 | NP_998816.1 | calcium-binding mitochondrial carrier protein SCaMC-1 isoform 2 |
| NM_013386.5 | NP_037518.3 | calcium-binding mitochondrial carrier protein SCaMC-1 isoform 1 |
| NM_213651.3 | NP_998816.1 | calcium-binding mitochondrial carrier protein SCaMC-1 isoform 2 |
| Molecular Function GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| enables ADP:phosphate antiporter activity |
IDA
IDA: Inferred from direct assay
|
15123600 | GOA |
| enables ATP transmembrane transporter activity |
IMP
IMP: Inferred from mutant phenotype
|
22015608 | GOA |
| enables ATP:phosphate antiporter activity |
IDA
IDA: Inferred from direct assay
|
15123600 | GOA |
| enables adenine nucleotide transmembrane transporter activity |
IDA
IDA: Inferred from direct assay
|
15123600 | GOA |
| enables calcium ion binding |
EXP
EXP: Inferred from Experiment
|
24332718 | GOA |
| enables calcium ion binding |
IDA
IDA: Inferred from direct assay
|
24332718 | GOA |
| Biological Process GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| involved in adenine nucleotide transport |
IDA
IDA: Inferred from direct assay
|
15123600 | GOA |
| involved in cellular response to calcium ion |
IMP
IMP: Inferred from mutant phenotype
|
22015608 | GOA |
| involved in cellular response to oxidative stress |
IMP
IMP: Inferred from mutant phenotype
|
29100093 | GOA |
| involved in mitochondrial ATP transmembrane transport |
IDA
IDA: Inferred from direct assay
|
15123600 | GOA |
| involved in mitochondrial ATP transmembrane transport |
IMP
IMP: Inferred from mutant phenotype
|
22015608 | GOA |
| involved in mitochondrial transport |
IMP
IMP: Inferred from mutant phenotype
|
29100093 | GOA |
| Cellular Component GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| located in membrane |
IDA
IDA: Inferred from direct assay
|
24332718 | GOA |
| located in mitochondrion |
IDA
IDA: Inferred from direct assay
|
15054102 | GOA |
SLC25A24 Protein Structure
EF-hand_7: EF-hand domain pair (24 - 83)
EF-hand_7: EF-hand domain pair (92 - 150)
Mito_carr: Mitochondrial carrier protein (192 - 281)
Mito_carr: Mitochondrial carrier protein (285 - 374)
Mito_carr: Mitochondrial carrier protein (384 - 472)
- 0
- 100
- 200
- 300
- 400
- 477 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
calcium-binding mitochondrial carrier protein SCaMC-1 |
|
関連疾患
| Diseases | Alias | |
|---|---|---|
| Fontaine Progeroid Syndrome |
|
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| Progeroid Syndrome |
|
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| Dementia |
|
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| Craniosynostosis |
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| Hypertrichosis |
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| Conduct Disorder |
|
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| Cecum Adenocarcinoma |
|
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| Colon Mucinous Adenocarcinoma |
|
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| Body Dysmorphic Disorder |
|
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| Umbilical Hernia |
|
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| Sengers Syndrome |
|
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| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
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